| | | Deletion (frameshift variant) | Fetal akinesia deformation sequence 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 2 | |
| | | Single nucleotide variant (nonsense) | Fetal akinesia deformation sequence 2 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Fetal akinesia deformation sequence 2 | |
| | | Single nucleotide variant (splice donor variant) | Fetal akinesia deformation sequence 1 +3 more | |
| | | Single nucleotide variant (nonsense) | Fetal akinesia deformation sequence 2 | |
| | | Single nucleotide variant (splice donor variant) | Fetal akinesia deformation sequence 2 | |
| | | Insertion (frameshift variant) | Fetal akinesia deformation sequence 2 | |
| | | Single nucleotide variant (nonsense) | Fetal akinesia deformation sequence 2 | |
| | | Duplication (frameshift variant) | Fetal akinesia deformation sequence 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myasthenic syndrome 11 +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Fetal akinesia deformation sequence 2 | |
| | | Deletion (frameshift variant) | Fetal akinesia deformation sequence 2 | |
| | | Deletion (splice acceptor variant) | Congenital myasthenic syndrome 11 +2 more | |
| | | Deletion (frameshift variant) | Fetal akinesia deformation sequence 1 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Fetal akinesia deformation sequence 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Fetal akinesia deformation sequence 2 | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense) | Congenital myasthenic syndrome 11 +2 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +5 more | GConflicting classifications of pathogenicity |
| | | Indel (intron variant +1 more) | Fetal akinesia deformation sequence 2 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Fetal akinesia deformation sequence 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +3 more | |
| | | Single nucleotide variant (nonsense) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Deletion (frameshift variant) | Fetal akinesia deformation sequence 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Fetal akinesia deformation sequence 2 +2 more | |
| | | Single nucleotide variant (nonsense) | Fetal akinesia deformation sequence 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Fetal akinesia deformation sequence 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Congenital myasthenic syndrome 11 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +2 more | |
| | | Duplication (frameshift variant) | Fetal akinesia deformation sequence 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Fetal akinesia deformation sequence 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Fetal akinesia deformation sequence 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +3 more | |
| | | Deletion (frameshift variant) | RAPSN-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +2 more | |
| | | Single nucleotide variant (nonsense) | Fetal akinesia deformation sequence 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Fetal akinesia deformation sequence 2 +3 more | |
| | | Single nucleotide variant | Congenital myasthenic syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Fetal akinesia deformation sequence 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Congenital Myasthenic Syndrome, Recessive +5 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Fetal akinesia deformation sequence 2 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 2 +3 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Fetal akinesia deformation sequence 2 +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Fetal akinesia deformation sequence 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | GPathogenic/Likely pathogenic |